Billerbeck, Ana Elisa C.

Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors

Pinto, E. M., Billerbeck, A. E. C., Villares, M. C. B. F., Domenice, S., Mendonça, B. B., & Latronico, A. C. (2004) · Arquivos Brasileiros de Endocrinologia & Metabologia

Adrenal and Paraganglionic TumorsGenetic factors in colorectal cancer

Cited by 153

Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency1

Bachega, T. A. S. S., Billerbeck, A. E. C., Madureira, G., Marcondes, J. A. M., Longui, C. A., Leite, M. V., Arnhold, I. J. P., & Mendonca, B. B. (1998) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 108

Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Bachega, T. A. S. S., Billerbeck, A. E. C., Marcondes, J. A. M., Madureira, G., Arnhold, I. J. P., & Mendonca, B. B. (2000) · Clinical Endocrinology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 90

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction

de Carvalho, D. F., Miranda, M. C., Gomes, L. G., Madureira, G., Marcondes, J. A. M., Billerbeck, A. E. C., Rodrigues, A. S., Presti, P. F., Kuperman, H., Damiani, D., et al. (2016) · European Journal of Endocrinology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 75

Microconversion between CYP21A2 and CYP21A1P Promoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency

Araújo, R. S., Mendonca, B. B., Barbosa, A. S., Lin, C. J., Marcondes, J. A. M., Billerbeck, A. E. C., & Bachega, T. A. S. S. (2007) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 70

Three Novel Mutations in CYP21 Gene in Brazilian Patients with the Classical Form of 21-Hydroxylase Deficiency Due to a Founder Effect

Billerbeck, A. E. C., Mendonca, B. B., Pinto, E. M., Madureira, G., Arnhold, I. J. P., & Bachega, T. A. S. S. (2002) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 65

The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene

Rocha, R. O., Billerbeck, A. E. C., Pinto, E. M., Melo, K. F. S., Lin, C. J., Longui, C. A., Mendonca, B. B., & Bachega, T. A. S. S. (2008) · Clinical Endocrinology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 43

Substitutions in the CYP21A2 promoter explain the simple‐virilizing form of 21‐hydroxylase deficiency in patients harbouring a P30L mutation

Araujo, R. S., Billerbeck, A. E. C., Madureira, G., Mendonca, B. B., & Bachega, T. A. S. S. (2005) · Clinical Endocrinology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 42

Estudo multicêntrico de pacientes brasileiros com deficiência da 21-hidroxilase: correlação do genótipo com o fenótipo

Bachega, T. A. S. S., Billerbeck, A. E. C., Parente, É. B., Lemos-Marini, S. H. V., Baptista, M. T. M., Mello, M. P., Guerra Jr., G., Kuperman, H., Setian, N., Damiani, D., et al. (2004) · Arquivos Brasileiros de Endocrinologia & Metabologia

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 25

Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency

Cukier, P., Bachega, T. A. S. S., Mendonça, B. B., & Billerbeck, A. E. C. (2004) · Revista do Hospital das Clínicas

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 1